A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018522



Internal ID18761055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7364449..7534398hg38UCSC Ensembl
Innerchr8:7221971..7391920hg19UCSC Ensembl
Innerchr8:7209381..7379330hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38169950
hg19169950
hg18169950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6924n100
Supporting Variantsnssv3678846
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018522
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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